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GENETIC AND BIOCHEMICAL THROMBOSIS RISK MARKERS IN PREGNANCY. II. HOMOCYSTEINE METABOLISM

机译:妊娠的遗传和生物化学性血栓形成危险标志。二。高半胱氨酸代谢

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Hyperhomocysteinemia is considered a biomarker in thrombosis risk and adverse pregnancy outcomes. It results from alterations in the key methyl group metabolism of the human cells named “one-carbon metabolism”. This involves metabolites homocysteine, S-adenosylmethionine and S- adenosylhomocystein, whose functionality is linked with environmental factors (dietary cofactors intakes of the methylation reactions, such as B vitamins, including folate, methyl donors such as choline, methionine, betaine and alco microelements, including cathions) and also with the endogenous, genetic factors (single nucleotide polymorphisms influencing the functions of genes controlling methylation and transsulfuration pathways such as methylenetetrahydrofolate reductase - MTHFR, methionine synthase- MTR, methionine synthase reductase-MTRR, as well as DNA methyltransferase 3b- DNMT3b). Together, these genetic and epigenetic biomarkers are studied on a cohort of pregnant women with and without declared history of previous pregnancy problems in order to be integrated in a thrombophilia evaluation panel, suggesting certain prophylactic or treatment solutions additional to those already established from the coagulation biomarkers.
机译:高同型半胱氨酸血症被认为是血栓形成风险和不良妊娠结局的生物标志物。它起因于人类细胞中关键的甲基代谢的改变,即“一碳代谢”。这涉及代谢物同型半胱氨酸,S-腺苷甲硫氨酸和S-腺苷同型半胱氨酸,它们的功能与环境因素有关(甲基化反应的饮食辅因子摄入,例如叶酸等B族维生素,胆碱,蛋氨酸,甜菜碱和醇微元素等甲基供体,包括阳离子)以及内源性遗传因素(影响控制甲基化和转硫途径的基因功能的单核苷酸多态性,例如亚甲基四氢叶酸还原酶-MTHFR,甲硫氨酸合酶-MTR,甲硫氨酸合酶还原酶-MTRR以及DNA甲基转移酶3b- DNMT3b)。这些遗传和表观遗传标志物一起在一组孕妇中进行了研究,无论有无先前的怀孕问题史,以便将其整合到血栓形成性评估小组中,建议从凝血生物标志物中建立的预防或治疗方案之外的其他解决方案。

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